Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.68335725G>A | CA7631848 | ITGA11 | c.1397C>T (p.Thr466Ile) n.286C>T n.376C>T c.1091C>T (p.Thr364Ile) c.1190C>T (p.Thr397Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.68335725G>C | CA392977715 | ITGA11 | c.1397C>G (p.Thr466Ser) n.286C>G n.376C>G c.1091C>G (p.Thr364Ser) c.1190C>G (p.Thr397Ser) | |
15 | g.68335725G= | CA2184934323 | ITGA11 | c.1397C= (p.Thr466=) n.286C= n.376C= c.1091C= (p.Thr364=) c.1190C= (p.Thr397=) | |
15 | g.68335725G>T | CA392977716 | ITGA11 | c.1397C>A (p.Thr466Asn) n.286C>A n.376C>A c.1091C>A (p.Thr364Asn) c.1190C>A (p.Thr397Asn) | |
15 | g.68335726T>A | CA392977717 | ITGA11 | c.1396A>T (p.Thr466Ser) n.285A>T n.375A>T c.1090A>T (p.Thr364Ser) c.1189A>T (p.Thr397Ser) | |
15 | g.68335726T>C | CA392977718 | ITGA11 | c.1396A>G (p.Thr466Ala) n.285A>G n.375A>G c.1090A>G (p.Thr364Ala) c.1189A>G (p.Thr397Ala) | |
15 | g.68335726T>G | CA392977719 | ITGA11 | c.1396A>C (p.Thr466Pro) n.285A>C n.375A>C c.1090A>C (p.Thr364Pro) c.1189A>C (p.Thr397Pro) | dbSNP gnomAD v4 |
15 | g.68335726T= | CA2184934324 | ITGA11 | c.1396A= (p.Thr466=) n.285A= n.375A= c.1090A= (p.Thr364=) c.1189A= (p.Thr397=) | |
15 | g.68335727G>A | CA490946279 | ITGA11 | c.1395C>T (p.Leu465=) n.284C>T n.374C>T c.1089C>T (p.Leu363=) c.1188C>T (p.Leu396=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.68335727G>C | CA490946280 | ITGA11 | c.1395C>G (p.Leu465=) n.284C>G n.374C>G c.1089C>G (p.Leu363=) c.1188C>G (p.Leu396=) | |
15 | g.68335727G= | CA2184934325 | ITGA11 | c.1395C= (p.Leu465=) n.284C= n.374C= c.1089C= (p.Leu363=) c.1188C= (p.Leu396=) | |
15 | g.68335727G>T | CA490946281 | ITGA11 | c.1395C>A (p.Leu465=) n.284C>A n.374C>A c.1089C>A (p.Leu363=) c.1188C>A (p.Leu396=) | |
15 | g.68335728A>C | CA392977720 | ITGA11 | c.1394T>G (p.Leu465Arg) n.283T>G n.373T>G c.1088T>G (p.Leu363Arg) c.1187T>G (p.Leu396Arg) | |
15 | g.68335728A>G | CA392977721 | ITGA11 | c.1394T>C (p.Leu465Pro) n.283T>C n.373T>C c.1088T>C (p.Leu363Pro) c.1187T>C (p.Leu396Pro) | |
15 | g.68335728A>T | CA392977722 | ITGA11 | c.1394T>A (p.Leu465His) n.283T>A n.373T>A c.1088T>A (p.Leu363His) c.1187T>A (p.Leu396His) | |
15 | g.68335729G>A | CA392977723 | ITGA11 | c.1393C>T (p.Leu465Phe) n.282C>T n.372C>T c.1087C>T (p.Leu363Phe) c.1186C>T (p.Leu396Phe) | |
15 | g.68335729G>C | CA392977724 | ITGA11 | c.1393C>G (p.Leu465Val) n.282C>G n.372C>G c.1087C>G (p.Leu363Val) c.1186C>G (p.Leu396Val) | |
15 | g.68335729G>T | CA392977725 | ITGA11 | c.1393C>A (p.Leu465Ile) n.282C>A n.372C>A c.1087C>A (p.Leu363Ile) c.1186C>A (p.Leu396Ile) | |
15 | g.68335730G>A | CA490946282 | ITGA11 | c.1392C>T (p.Ser464=) n.281C>T n.371C>T c.1086C>T (p.Ser362=) c.1185C>T (p.Ser395=) | |
15 | g.68335730G>C | CA392977726 | ITGA11 | c.1392C>G (p.Ser464Arg) n.281C>G n.371C>G c.1086C>G (p.Ser362Arg) c.1185C>G (p.Ser395Arg) | |
15 | g.68335730G>T | CA392977727 | ITGA11 | c.1392C>A (p.Ser464Arg) n.281C>A n.371C>A c.1086C>A (p.Ser362Arg) c.1185C>A (p.Ser395Arg) | |
15 | g.68335731C>A | CA392977728 | ITGA11 | c.1391G>T (p.Ser464Ile) n.280G>T n.370G>T c.1085G>T (p.Ser362Ile) c.1184G>T (p.Ser395Ile) | |
15 | g.68335731C= | CA2184934326 | ITGA11 | c.1391G= (p.Ser464=) n.280G= n.370G= c.1085G= (p.Ser362=) c.1184G= (p.Ser395=) | |
15 | g.68335731C>G | CA392977729 | ITGA11 | c.1391G>C (p.Ser464Thr) n.280G>C n.370G>C c.1085G>C (p.Ser362Thr) c.1184G>C (p.Ser395Thr) | |
15 | g.68335731C>T | CA392977730 | ITGA11 | c.1391G>A (p.Ser464Asn) n.280G>A n.370G>A c.1085G>A (p.Ser362Asn) c.1184G>A (p.Ser395Asn) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.68335732T>A | CA392977731 | ITGA11 | c.1390A>T (p.Ser464Cys) n.279A>T n.369A>T c.1084A>T (p.Ser362Cys) c.1183A>T (p.Ser395Cys) | |
15 | g.68335732T>C | CA392977732 | ITGA11 | c.1390A>G (p.Ser464Gly) n.279A>G n.369A>G c.1084A>G (p.Ser362Gly) c.1183A>G (p.Ser395Gly) | |
15 | g.68335732T>G | CA392977733 | ITGA11 | c.1390A>C (p.Ser464Arg) n.279A>C n.369A>C c.1084A>C (p.Ser362Arg) c.1183A>C (p.Ser395Arg) | |
15 | g.68335733C>A | CA490946283 | ITGA11 | c.1389G>T (p.Arg463=) n.278G>T n.368G>T c.1083G>T (p.Arg361=) c.1182G>T (p.Arg394=) | |
15 | g.68335733C>G | CA490946284 | ITGA11 | c.1389G>C (p.Arg463=) n.278G>C n.368G>C c.1083G>C (p.Arg361=) c.1182G>C (p.Arg394=) | |
15 | g.68335733C>T | CA490946285 | ITGA11 | c.1389G>A (p.Arg463=) n.278G>A n.368G>A c.1083G>A (p.Arg361=) c.1182G>A (p.Arg394=) | |
15 | g.68335734C>A | CA392977734 | ITGA11 | c.1388G>T (p.Arg463Leu) n.277G>T n.367G>T c.1082G>T (p.Arg361Leu) c.1181G>T (p.Arg394Leu) | |
15 | g.68335734C= | CA2184934327 | ITGA11 | c.1388G= (p.Arg463=) n.277G= n.367G= c.1082G= (p.Arg361=) c.1181G= (p.Arg394=) | |
15 | g.68335734C>G | CA392977735 | ITGA11 | c.1388G>C (p.Arg463Pro) n.277G>C n.367G>C c.1082G>C (p.Arg361Pro) c.1181G>C (p.Arg394Pro) | |
15 | g.68335734C>T | CA7631849 | ITGA11 | c.1388G>A (p.Arg463Gln) n.277G>A n.367G>A c.1082G>A (p.Arg361Gln) c.1181G>A (p.Arg394Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.68335735G>A | CA7631850 | ITGA11 | c.1387C>T (p.Arg463Trp) n.276C>T n.366C>T c.1081C>T (p.Arg361Trp) c.1180C>T (p.Arg394Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.68335735G>C | CA392977736 | ITGA11 | c.1387C>G (p.Arg463Gly) n.276C>G n.366C>G c.1081C>G (p.Arg361Gly) c.1180C>G (p.Arg394Gly) | dbSNP gnomAD v2 |
15 | g.68335735G= | CA2184934328 | ITGA11 | c.1387C= (p.Arg463=) n.276C= n.366C= c.1081C= (p.Arg361=) c.1180C= (p.Arg394=) | |
15 | g.68335735G>T | CA490946286 | ITGA11 | c.1387C>A (p.Arg463=) n.276C>A n.366C>A c.1081C>A (p.Arg361=) c.1180C>A (p.Arg394=) | gnomAD v4 COSMIC |
15 | g.68335736G>A | CA490946287 | ITGA11 | c.1386C>T (p.Asn462=) n.275C>T n.365C>T c.1080C>T (p.Asn360=) c.1179C>T (p.Asn393=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.68335736G>C | CA392977738 | ITGA11 | c.1386C>G (p.Asn462Lys) n.275C>G n.365C>G c.1080C>G (p.Asn360Lys) c.1179C>G (p.Asn393Lys) | |
15 | g.68335736G= | CA2184934329 | ITGA11 | c.1386C= (p.Asn462=) n.275C= n.365C= c.1080C= (p.Asn360=) c.1179C= (p.Asn393=) | |
15 | g.68335736G>T | CA392977737 | ITGA11 | c.1386C>A (p.Asn462Lys) n.275C>A n.365C>A c.1080C>A (p.Asn360Lys) c.1179C>A (p.Asn393Lys) | gnomAD v4 |
15 | g.68335737T>A | CA392977739 | ITGA11 | c.1385A>T (p.Asn462Ile) n.274A>T n.364A>T c.1079A>T (p.Asn360Ile) c.1178A>T (p.Asn393Ile) | |
15 | g.68335737T>C | CA392977740 | ITGA11 | c.1385A>G (p.Asn462Ser) n.274A>G n.364A>G c.1079A>G (p.Asn360Ser) c.1178A>G (p.Asn393Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.68335737T>G | CA392977741 | ITGA11 | c.1385A>C (p.Asn462Thr) n.274A>C n.364A>C c.1079A>C (p.Asn360Thr) c.1178A>C (p.Asn393Thr) | |
15 | g.68335737T= | CA2184934330 | ITGA11 | c.1385A= (p.Asn462=) n.274A= n.364A= c.1079A= (p.Asn360=) c.1178A= (p.Asn393=) | |
15 | g.68335738T>A | CA392977742 | ITGA11 | c.1384A>T (p.Asn462Tyr) n.273A>T n.363A>T c.1078A>T (p.Asn360Tyr) c.1177A>T (p.Asn393Tyr) | |
15 | g.68335738T>C | CA392977743 | ITGA11 | c.1384A>G (p.Asn462Asp) n.273A>G n.363A>G c.1078A>G (p.Asn360Asp) c.1177A>G (p.Asn393Asp) | |
15 | g.68335738T>G | CA392977744 | ITGA11 | c.1384A>C (p.Asn462His) n.273A>C n.363A>C c.1078A>C (p.Asn360His) c.1177A>C (p.Asn393His) |